Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
McArdle's Disease in the 1980s
NEJM 312:370-371, Layzer,R.B., 1985
Clinicopathologic Conference, Statin-Associated Autoimmune Myopathy
NEJM 381:275-283, Case 22-2019, 2019
Progressive Proximal Weakness in a 56-year-old Man with Bone Pain
Neurol 93:939-944, Torabi,T.,et al, 2019
Subacute Paresis in a 28-year-old man with HIV
Neurol 90:432-435, Harada, Y.,et al, 2018
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
MELAS
MedLink.com, August, Klopstock, T., 2012
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Cognitive Dysfunction as the Major Presenting Feature of Becker's Muscular Dystrophy
Neurol 46:461-465, North,K.N.,et al, 1996
Inclusion Body Myositis
JNNP 60:251-255, Garlepp,M.J.&Mastaglia,F.L., 1996
Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996
Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996
Distal WEakness in Dystrophin-Deficient Muscular Dystrophy
Muscle & Nerve 19:1608-1610996., Felice,K.J., 1996
Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995
Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.A.,et al, 1994
The Nondystrophic Myotonias
In Myology, McGraw-Hill, 2nd Ed, Ch49, p1291-13024., Rudel,R.,et al, 1994
Human Immunodeficiency Virus Type 1 Infection and Myopathy:Clinical Relevance of Zidovudine Therapy
Ann Neurol 34:206-211, Grau,J.M.,et al, 1993
ELISA Quantitation of Dystrophin for the Diagnosis of Duchenne and Becker Muscular Dystrophies
Neurol 42:570-576, Byers,T.J.,et al, 1992
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) :Clin Features & DNA Mutation
Neurol 42:545-550, Goto,Y.,et al, 1992
Skeletal Muscle Toxoplasmosis in Patients with Acquired Immunodeficiency Syndrome:A Clinicopath Study
Ann Neurol 32:535-542, Gherardi,R.,et al, 1992
McArdle's Disease with Late-Onset Symptoms:Case Report & Review of the Literature
JNNP 55:407-408, Felice,K.J.,et al, 1992
Myopathy in Human Immunodeficiency Virus-Infected Children Receiving Long-Term Zidovudine Therapy
J Pediatr 119:152-155, Walter,E.B.,et al, 1991
Zidovudine Myopathy:A Distinctive Disorder Associated with Mitochondrial Dysfunction
Ann Neurol 29:606-614, Mhiri,C.,et al, 1991
Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990
Myopathy with Human Immunodeficiency Virus Type I (HIV-1) Infection:HIV-1 or Zidovudine?
Ann Int Med 113:492-493, Till,M.&MacDonell,K., 1990
Human Immunodeficiency Virus Assoc Myopathy:Immunocytochemical Ident of an HIV Antigen (gp41) in Muscle Macrophages
Ann Neurol 28:579-582, Chad,D.A.,et al, 1990
Skeletal Muscle Pathology in AIDS:An Autopsy Study
Muscle & Nerve, 13:508-51590., Wrzolek,M.A.,et al, 1990
HTLV-I Polymyositis in a Patient Also Infected with the Human Immunodeficiency Virus
NEJM 320:992-995, Wiley,C.A.,et al, 1989
Improved Diagnosis of Becker Muscular Dystrophy by Dystrophin Testing
Neurol 39:1011-1017, Hoffman,E.P.,et al, 1989
Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
HTLV-1 Associated Myelopathy and Polymyositis in a US Native
Neurol 39:1572-1575, Evans,B.K.,et al, 1989
Human Immunodeficiency Virus-Associated Myopathy:Analysis of 11 Pts
Ann Neurol 24:79-84, Simpson,D.M.&Bender,A.N., 1988
Characterization of Dystrophin in Muscle-Biopsy Spec from Pts with Duchenne's or Becker's Muscular Dystrophy
NEJM 318:1363-1368, 13921988., Hoffman,E.P.,et al, 1988
MELAS Syndrome:Characteristic Migrainous & Epileptic Features and Maternal Transmission
Neurol 38:751-754, Montagne,P.,et al, 1988
Facioscapulohumeral Muscular Dystrophy, in Neuromuscular Disease
Springer-Verlag, NY, p289988., Swash,M.&Schwartz,M.S., 1988
Clinicopath Conf
Myopathy Due to Adult Acid Maltase Deficiency, 36-1986, NEJM 315:694-701986., , 1986
Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
Benign Focal Amyotrophy
Arch Neurol 41:678-679, Riggs,J.E.,et al, 1984
Needle Biopsy of Skeletal Muscle In The Diag of Myopathy & Clinical Study of Muscle Funct & Repair
NEJM 302:261-271, Edwards,R.,et al, 1980
Haemophilic Neuromyopathy
JNNP 42:600-605, Defaria,C.R.,et al, 1979
Lactic Acidemia, Mitochondrial Myopathy, & Basal Ganglia Calcification
Neurol 29:1057-1061, Markesbery,Wm.R., 1979
Familial Neuromuscular Disease with Type 1 Fiber Hypoplasia, Tubular Aggregates, Cardiomyopathy, & Myasthenic Features
Neurol 28:1135-1140, Dobkin,B.H.,et al, 1978
Muscle Fiber-Type Disproportion
Arch Neurol 35:823-826, Eisler,T.,et al, 1978